Rare Epilepsy Network (REN) is a volunteer network that connects rare epilepsy organizations and broad epilepsy stakeholders to work together to improve the lives lived of our individual constituents. They work to promote and enable successful patient-centered outcomes research, enable successful clinical trials in the rare epilepsies, and increase representation of the rare epilepsies in funding, research,…
Jennifer M. Bain, MD, PhD, is a physician scientist specializing in pediatric neurology. Dr. Bain is leading the cerebral palsy genetics study at the Weinberg Family Cerebral Palsy Center at Columbia University. She has a special interest in developmental disorders, including CTNNB1. Dr. Bain performed neurology assessments this past summer for our Natural History Study, and…
We are delighted to share the great news that lead researcher, Dr. Michele Jacob, Professor of Neuroscience at Tufts University, was recently awarded an NIH grant to conduct proof-of-concept studies of the therapeutic efficacy and safety of gene replacement therapy in CTNNB1 syndrome models. The studies are using two preclinical models of CTNNB1 heterozygosity, an in…
Attention CTNNB1 families! CTNNB1 Connect and Cure is excited to announce our partnership with Invitae’s Rare Patient Network on the Ciitizen platform. We are joining many other rare disease groups that have been using Ciitizen to build high-quality natural history data in a fraction of the time. Researchers and pharmaceutical companies have already used the data…
A wonderful fundraising event had about 180 people in attendance and they raised over $16,000! Read all the details from CTNNB1 mom Diana.
Probably Genetic is a group of geneticists, engineers, and patients seeking to help people with rare diseases access genetic testing. The company has recently launched a no-cost genetic testing program for people with seizures, movement disorders and/or developmental delay. Eligible individuals can receive whole exome sequencing at no cost. This testing analyzes all of the protein-coding regions of your DNA for disease- causing mutations.
Looking for a new fundraiser idea? Effie Parks, CTNNB1 Connect & Cure board member and mom to CTNNB1 son Ford, had a great – and successful – idea for this year's Rare Disease Day. She joined forces with her good friend and fellow Rare mom, Jill Hawkins, to host a “Rare Soiree,” an auction and cocktail…
CTNNB1 has been updated in the NORD database with new information and associated research about the disorder. https://rarediseases.org/rare-diseases/ctnnb1-syndrome/
Meta-analysis shows similar genetic diagnostic yield for cerebral palsy and other neurodevelopmental disorders. Thirteen studies published between 2013 and 2022, comprising 2,612 people, all related to CP and genetic testing, were evaluated by the Geisinger research team. Read more at https://www.eurekalert.org/news-releases/981810?fbclid=IwAR3DQVYNnL03XsTjFVPCfgnH-UtaT93oLIo_UE2YO1ck70IJRj3nZIts3tw.
A recent article from Mark Corbett and Sayaka Kayumi from the University of Adelaide in Australia shows that CTNNB1 can often be misdiagnosed as Cerebral Palsy. Studies show that one-quarter of CP cases are genetic in nature. In their study, CTNNB1 was the most frequently affected gene (4% of diagnoses) in a group of 1345 individuals…